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Clinical aspects of the disorders of GABA metabolism in children.
Pearl PL, Gibson KM. Pearl PL, et al. Curr Opin Neurol. 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005. Curr Opin Neurol. 2004. PMID: 15021235 Review.
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis. Pyridoxine dependent epilepsy is diagnosed clinically but potentially more common presentations, with l …
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH defi …
Inherited disorders of GABA metabolism.
Jakobs C, Jaeken J, Gibson KM. Jakobs C, et al. J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902. J Inherit Metab Dis. 1993. PMID: 8412016 Review.
glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyde dehydrogenase deficiency (32 patients/21 families); and (4) homocarnosinosis associated with serum carnosinase deficiency (3 patien …
glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyd …
Carnosinase and homocarnosinosis.
Lenney JF. Lenney JF. J Oslo City Hosp. 1985 Feb-Mar;35(2-3):27-40. J Oslo City Hosp. 1985. PMID: 3891936 Review. No abstract available.
[Serum carnosinase deficiency and homocarnosinosis].
Hamajima N, Wada Y. Hamajima N, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):252-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590040 Review. Japanese. No abstract available.